Results 91 to 100 of about 325,583 (286)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
A protocol to quantify cross-sectional and longitudinal differences in duction patterns
Frontiers in NeuroscienceCurrently, there is no established system for quantifying patterns of ocular ductions. This poses challenges in tracking the onset and evolution of ocular motility disorders, as current clinical methodologies rely on subjective observations of individual
Kevin T. Willeford +2 more
doaj +1 more source
Niemann–Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis
Advanced Biomedical Research, 2017 In this study, we report a 26-year-old female case of Niemann–Pick disease type C in association with Fuchs heterochromic iridocyclitis who was admitted with the complaint of ocular pain and redness following trauma.
Farzan Kianersi, Seyed Ali Sonbolestan
doaj +1 more source
, 2018 To investigate the relationship between ocular motility and the degree of superior oblique muscle hypoplasia in subjects with unilateral superior oblique palsy (SOP)
Ji Eun Lee; Hee Kyung Yang; Jae Hyoung Kim; Jeong-Min Hwang
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
Ocular Motility Abnormalities in Head Injury Patients
, 1996 To study the effects of head trauma on extraocular movements. Eye movements are known to be affected in patients after severe head injuries. However, this has not been sufficiently studied in patients with mild to moderate head injuries.
Erik J. Kobylarz, MD, PhD; R. J. Labutta, MD; M. L. Rosenberg, MD; A. Salazar
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan +5 more
wiley +1 more source
Three Cases of Acquired Simulated Brown Syndrome after Blowout Fracture Operations
Archives of Plastic Surgery, 2015 Brown syndrome is known as limited elevation of the affected eye during adduction. It is caused by a disorder of the superior oblique tendon, which makes it difficult for the eyeball to look upward, especially during adduction.
So Young Ji +4 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub +24 more
wiley +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source